Vladimı́r Bzdúch

TMEM70 deficiency: long‐term outcome of 48 patients

Martin Magner, Veronika Dvořáková, Markéta Tesařová et al. · Journal of Inherited Metabolic Disease · 2014 · 68 citations

Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease

Jean-Claude Lubanda, Ene Anijalg, Vladimı́r Bzdúch et al. · Genetics in Medicine · 2009 · 61 citations · Full text

Standard Therapeutic Dose, Low Dose, Enzyme Replacement Therapy +3

Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type<scp>II</scp>

Lenka Dvořáková, Hana Vlášková, Adrijan Sarajlija et al. · Clinical Genetics · 2016 · 32 citations

Neurological Disorder, Immunodeficiencies, Genetic Epidemiology +20

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

Daniela Záhoráková, R. Rosipal, Jan Hadač et al. · Journal of Human Genetics · 2007 · 25 citations · Full text

Genetic Disorder, Rett Syndrome, Genetics +8

Smith–Lemli–Opitz syndrome: Molecular‐genetic analysis of ten families

Libor Kozák, Hana Skuhrová Francová, Eva Hrabincová et al. · Journal of Inherited Metabolic Disease · 2000 · 17 citations

Mendelian Disorder, Genetic Disorder, Smith–lemli–opitz Syndrome +5